H30H (p.His30His) variant of SYNGAP1 (Q96PV0)
H30H (p.His30His) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H30H (p.His30His) variant details
- p.His30His
- rs769919074
- gnomAD 6-33423499-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 9.41
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available